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Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
Ozaki K, Yatsuka Y, Oyazato Y, Nishiyama A, Nitta KR, Kishita Y, Fushimi T, Shimura M, Noma S, Sugiyama Y, Tagami M, Fukunaga M, Kinoshita H, Hirata T, Suda W, Murakawa Y, Carninci P, Ohtake A, Murayama K, Okazaki Y. Ozaki K, et al. Among authors: nitta kr. NPJ Genom Med. 2024 Oct 25;9(1):48. doi: 10.1038/s41525-024-00429-5. NPJ Genom Med. 2024. PMID: 39455596 Free PMC article.
Comparison of different ANCA detection methods in a predominantly MPO-ANCA-associated vasculitis cohort.
Katsumata Y, Sada KE, Kameda T, Dobashi H, Kaname S, Tsuboi N, Matsumoto Y, Amano K, Tamura N, Harigai M; Research Committee of Intractable Vasculitis Syndrome and the Research Committee of Intractable Renal Disease of the Ministry of Health, Labour and Welfare of Japan; Members of the Research Committee of Intractable Vasculitis Syndrome and the Research Committee of Intractable Renal Disease of the Ministry of Health, Labour and Welfare of Japan: In addition to the authors, the following investigators and institutions participated in this study:. Katsumata Y, et al. Immunol Med. 2024 Oct 11:1-11. doi: 10.1080/25785826.2024.2408054. Online ahead of print. Immunol Med. 2024. PMID: 39391948 Free article.
1,523 results